rs111404724
This is a downstream gene variant variant in the C2orf49 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
protein measurement
He B et al. “Genome-wide pQTL analysis of protein expression regulatory networks in the human liver.” Bmc Biology 18(1):97 (2020)
Allele A
OR 0.15
p 5.0e-9
N 287
Small GWAS
multi-ancestry
About C2orf49
Predicted to be involved in tRNA splicing, via endonucleolytic cleavage and ligation. Located in nucleoplasm. Part of tRNA-splicing ligase complex. [provided by Alliance of Genome Resources, Jul 2025]
View all C2orf49 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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